Current Research Studies

Acidemia – Mapping the Patient Journey in Methylmalonic and Propionic Acidemia (The MaP Study)

Condition or Therapy:

Methylmalonic acidemia and propionic acidemia 

Category:

Genetics; Developemental Medicine

What is the goal of this study?

The goal of this study is to gather patient data into a registry, producing a database to help researchers characterize changes in blood disease biomarkers over time and the frequency and severity of clinical events related to methylmalonic acidemia and propionic acedemia (MaP).

The full name of the study is called "Mapping the Patient Journey in Methylmalonic and Propionic Acidemia: A longitudinal, exploratory, natural history study to further characterize and describe the signs and symptoms of patients with organic acidemias."

Who can join the study?

The study is accepting patients of both genders, of all ages, who have a diagnosis of methylmalonic acedemia (mutase deficiency subtype) or propionic acidemia.

Researchers use many other factors to decide whether or not a patient can take part in a study (called inclusion and exclusion criteria). The study team at Seattle Children’s can explain what these factors mean for you or your child.

What will happen if my child takes part in this study?

If you decide to take part in the study, we would collect some of your health information and enter it into a database. Your name would be replaced with a study subject code to help protect your idenfity.

You would also have blood draws in conjunction with clinical blood draws at your appointments. You will also be asked an some questions of your health and quality of life.

Who can I contact for more information?

Please contact our study team at 206-884-1264 or by email.


Study Location(s):

Seattle Children's Hospital main campus

Principal Investigator:

Dr. Lawerence Merritt

Study posted: June 27, 2019